Growth charts in Kabuki syndrome 1

Ruault, Valentin; Corsini, Carole; Akouete, Sandrine; Georgescu, V.; Abaji, Mario; Alembick, Yves; Alix, Eudéline; Amiel, Jeanne; Amouroux, C; Barat‐Houari, Mouna; Baumann, Clarisse; Bonnard, Adeline; Boursier, Guilaine; Boute, Odile; Bürglen, Lydie; Busa, Tiffany; Cordier, Marie‐Pierre; Cormier‐Daire, Valérie; Delrue, Marie‐Ange; Doray, Bérénice; Faivre, Laurence; Fradin, Mélanie; Gilbert‐Dussardier, Brigitte; Giuliano, Fabienne; Goldenberg, Alice; Gorokhova, Svetlana; Héron, Delphine; Isidor, Bertrand; Jacquemont, Marie‐Line; Jacquette, Aurélia; Jeandel, Claire; Lacombe, Didier; Merrer, Martine Le; Sang, Kim Hanh Le Quan; Lyonnet, Stanislas; Manouvrier, Sylvie; Michot, Caroline; Moncla, Anne; Moutton, Sébastien; Odent, Sylvie; Pelet, Anna; Philip, Nicole; Pinson, Lucile; Reversat, Julie; Roume, J.; Sanchez, Elodie; Sanlaville, Damien; Sarda, Pierre; Schaefer, Eric; Till, Marianne; Touitou, Isabelle; Toutain, Annick; Willems, Marjolaine; Gatinois, Vincent; Geneviève, David

doi:10.1002/ajmg.a.61462

Cited by 11 publications

(11 citation statements)

References 17 publications

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“…The limitation is that it is difficult to predict whether final KS patient growth rate will catch up to that of children not affected by KS. The normal distribution of Body mass index BMI in KS patient groups is much wider than in the general population, which suggests the increased presence of excess weight or even obesity in KS patients [26]. This obesity has been observed starting at the age of 4.…”

Section: Growth and Endocrinologymentioning

confidence: 97%

“…Another KS patient with a nonfunctional dysplastic kidney underwent successful transplantation at the age of 14 [192]. One KS patient did not undergo renal transplantation in time and died at the age of 5 years due to renal failure and concomitant pulmonary hypertension [26]. Renal hypoplasia characteristics can be seen upon renal ultrasonography and may be associated with increased risk of renal insufficiency.…”

Section: Nephrological Issues In Kabuki Syndromementioning

confidence: 99%

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Kabuki Syndrome—Clinical Review with Molecular Aspects

Boniel

Sztefko

Śmigiel

et al. 2021

Genes

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Kabuki syndrome (KS) is a rare developmental disorder principally comprised of developmental delay, hypotonia and a clearly defined dysmorphism: elongation of the structures surrounding the eyes, a shortened and depressed nose, thinning of the upper lip and thickening of the lower lip, large and prominent ears, hypertrichosis and scoliosis. Other characteristics include poor physical growth, cardiac, gastrointestinal and renal anomalies as well as variable behavioral issues, including autistic features. De novo or inherited pathogenic/likely pathogenic variants in the KMT2D gene are the most common cause of KS and account for up to 75% of patients. Variants in KDM6A cause up to 5% of cases (X-linked dominant inheritance), while the etiology of about 20% of cases remains unknown. Current KS diagnostic criteria include hypotonia during infancy, developmental delay and/or intellectual disability, typical dysmorphism and confirmed pathogenic/likely pathogenic variant in KMT2D or KDM6A. Care for KS patients includes the control of physical and psychomotor development during childhood, rehabilitation and multi-specialist care. This paper reviews the current clinical knowledge, provides molecular and scientific links and sheds light on the treatment of Kabuki syndrome individuals.

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Section: Growth and Endocrinologymentioning

confidence: 97%

Section: Nephrological Issues In Kabuki Syndromementioning

confidence: 99%

Kabuki Syndrome—Clinical Review with Molecular Aspects

Boniel

Sztefko

Śmigiel

et al. 2021

Genes

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“…A recent study identified a GH deficiency in 13% of subjects with KS1, with a size reduction beyond the predicted one (− 2 SD and − 1.8 SD for males and females, respectively). Interestingly in this study an absent response to GH therapy has been documented [33]. Growth during childhood depends primarily on the GH/IGF-1 axis and thyroid hormones.…”

Section: Discussionmentioning

confidence: 46%

“…Neurodevelopmental profile in our patient with KS1 was characterized by a progressive reduction of OFC and cerebellar vermis hypoplasia concomitant to developmental delay and generalized hypotonia with oromotor dysfunction. Postnatal microcephaly has been reported in 32% of patients with KS1 [33]. Developmental delay and/or intellectual disability have been considered diagnostic criteria in a recent consensus [13].…”

Section: Discussionmentioning

confidence: 99%

“…Since in our patient a primary hypothyroidism has been early identified and treated, with TSH and fT4 values normalization, in front of a further reduction of length centile and to monitor the described potential abnormalities in hypothalamic pituitary axis [38], IGF-1 and GH assessments could be considered. Since growth impairment has been widely described a strict auxological monitoring should be ensured mainly in the first three years of life and growth charts for KS1 should be adopted [33]. Hearing loss, conductive, or mixed mainly due to recurrent otitis media, should be ruled out since they have been reported in KS with a frequency up to 76.9% [39].…”

Section: Discussionmentioning

confidence: 99%

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Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

et al. 2020

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Background Persistent neonatal hypoglycemia, owing to the possibility of severe neurodevelopmental consequences, is a leading cause of neonatal care admission. Hyperinsulinemic hypoglycemia is often resistant to dextrose infusion and needs rapid diagnosis and treatment. Several congenital conditions, from single gene defects to genetic syndromes should be considered in the diagnostic approach. Kabuki syndrome type 1 (MIM# 147920) and Kabuki syndrome type 2 (MIM# 300867), can be associated with neonatal hyperinsulinemic hypoglycemia. Patient presentation We report a female Italian (Sicilian) child, born preterm at 35 weeks gestation, with persistent hypoglycemia. Peculiar facial dysmorphisms, neonatal hypotonia, and cerebellar vermis hypoplasia raised suspicion of Kabuki syndrome. Hyperinsulinemic hypoglycemia was confirmed with glucagon test and whole-exome sequencing (WES) found a novel heterozygous splicing-site mutation (c.674-1G > A) in KMT2D gene. Hyperinsulinemic hypoglycemia was successfully treated with diazoxide. At 3 months corrected age for prematurity, a mild global neurodevelopmental delay, postnatal weight and occipitofrontal circumference growth failure were reported. Conclusions Kabuki syndrome should be considered when facing neonatal persistent hypoglycemia. Diazoxide may help to improve hyperinsulinemic hypoglycemia. A multidisciplinary and individualized follow-up should be carried out for early diagnosis and treatment of severe pathological associated conditions.

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Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype

Usluer

Sayın

Güneş

et al. 2022

American J of Med Genetics Pt A

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Kabuki syndrome (KS) is a rare disorder characterized by distinct face, persistent fingertip pads, and intellectual disability (ID) caused by mutation in KMT2D (56%–76%) or KDM6A (5%–8%). Thirty‐seven children aged 1–16 years who followed for median of 6.8 years were included in this study, which aimed to investigate the genetic and clinical characteristics of KS patients. KMT2D and KDM6A were evaluated by sequencing and multiplex‐ligation‐dependent probe amplification in 32 patients. Twenty‐one pathogenic variants in KMT2D, of which 17 were truncated and nine were novel, one frame‐shift novel variant in KDM6A were identified. The molecular diagnosis rate was 68.7% (22/32). In the whole‐exome sequencing analysis performed in the remaining patients, no pathogenic variant that could cause any disease was detected. All patients had ID; 43.2% were severe and moderate. We observed that facial features that became more prominent with age were enough for a possible diagnosis of KS in infancy. The frequencies of facial features, cardiac and renal anomalies, short stature, microcephaly, and epilepsy did not differ depending on whether they had truncating or nontruncating variants or were in variant‐negative KS‐like group. This study has expanded clinical features of the disease, as well as identified new variants in genes causing KS.

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Growth charts in Kabuki syndrome 1

Cited by 11 publications

References 17 publications

Kabuki Syndrome—Clinical Review with Molecular Aspects

Kabuki Syndrome—Clinical Review with Molecular Aspects

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki‐like phenotype

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