Ayme gripp syndrome in an Indian patient

Chaudhry, Chakshu; Kaur, Parminder; Srivastava, Priyanka; Kaur, Anupriya

doi:10.1002/ajmg.a.62053

Cited by 3 publications

(6 citation statements)

References 5 publications

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“…T A B L E 1 Clinical features with HPO terms of the current case and the previous 27 patients reported in chronological order of identification (Alkhunaizi et al, 2019;Anand et al, 2018;Chaudhry et al, 2021;Gripp et al, 1996;Javadiyan et al, 2017;Jung et al, 2021;Keppler-Noreuil et al, 2007;Nakane et al, 2002;Xu et al, 2021). Table 1, our review of the current literature provides a clear overview of the possible scenarios that could be manifested in AGS patient together with the relative accountable genotypic variations.…”

Section: Discussionmentioning

confidence: 94%

“…Here, we reviewed the literature collecting all the cases described so far (Table 1; Alkhunaizi et al, 2019; Anand et al, 2018; Chaudhry et al, 2021; Gripp et al, 1996; Javadiyan et al, 2017; Jung et al, 2021; Keppler‐Noreuil et al, 2007; Nakane et al, 2002; Xu et al, 2021). We reported all the AGS clinically diagnosed patients displaying a pathogenic variant in MAF .…”

Section: Resultsmentioning

confidence: 99%

“…In literature, hearing loss is always bilateral and is mostly diagnosed early in childhood. On the other hand, cataract is often present in childhood, but may even occur later (Amudhavalli et al, 2018, 2020; Chaudhry et al, 2021; Niceta et al, 2020). Thus, as an age‐related phenotype, the patient will require long‐term surveillance for the possible development of this condition during life‐term.…”

Section: Discussionmentioning

confidence: 99%

“…In literature, hearing loss is always bilateral and is mostly diagnosed early in childhood. On the other hand, cataract is often present in childhood, but may even occur later (Amudhavalli et al, 2018(Amudhavalli et al, , 2020Chaudhry et al, 2021;Niceta et al, 2020). Thus, as an age-F I G U R E 2 Pedigree of the family of propositus.…”

Section: Discussionmentioning

confidence: 99%

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An atypical Aymé‐Gripp phenotype detected by exome sequencing

Caiazza,

Budillon,

Monda

et al. 2023

American J of Med Genetics Pt A

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Aymé‐Gripp Syndrome (AGS) is an ultra‐rare syndrome characterized by peculiar facial traits combined with early bilateral cataracts, sensorineural hearing loss, and variable neurodevelopmental abnormalities. Only a few cases carrying a pathogenic variant in MAF have been described to date. A significant effort is then required to expand the genotypic and phenotypic spectrum of this condition. In this paper, we report the peculiar case of a 6‐year‐old girl carrying a de novo missense pathogenic variant in MAF, being the first case reported to show a milder phenotype with no cataracts and deafness displayed. Furthermore, we performed a systematic review of previously published cases, focusing on clinical manifestation and genotype.

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Section: Discussionmentioning

confidence: 94%

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…In literature, hearing loss is always bilateral and is mostly diagnosed early in childhood. On the other hand, cataract is often present in childhood, but may even occur later (Amudhavalli et al, 2018(Amudhavalli et al, , 2020Chaudhry et al, 2021;Niceta et al, 2020). Thus, as an age-F I G U R E 2 Pedigree of the family of propositus.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

An atypical Aymé‐Gripp phenotype detected by exome sequencing

Caiazza,

Budillon,

Monda

et al. 2023

American J of Med Genetics Pt A

View full text Add to dashboard Cite

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“…Twenty-six cases have been reported thus far, and although an autosomal dominant pattern of transmission has been reported in two families (Alkhunaizi et al, 2019;Javadiyan et al, 2017), the disease-causing mutations occur as a de novo event in most cases (Amudhavalli et al, 2018;Amudhavalli et al, 2020;König et al, 2022;Niceta et al, 2015;Niceta et al, 2020). The clinical picture is believed to differ depending on the position and/or the affected amino acid residue (Amudhavalli et al, 2018;Chaudhry et al, 2021;Niceta et al, 2015;Niceta et al, 2020). However, genotype-phenotype correlations are currently not available.…”

Section: Discussionmentioning

confidence: 99%

Massive pericardial effusion in an infant with Aymé–Gripp syndrome: A case report and review of the literature

Esposito,

Niceta,

Novelli

et al. 2024

American J of Med Genetics Pt A

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Aymé–Gripp syndrome (AYGRPS) is a multisystemic disorder caused by a subset of pathogenic variants in the MAF gene. Major clinical features include bilateral early cataracts, sensorineural hearing loss (SNHL), and a characteristic facial appearance along with variable neurodevelopmental delay. Pericarditis resulting in pericardial effusion of varying degree has been observed in a subset of affected individuals and could represent a severe feature in neonatal or infantile age. Here, we describe a syndromic infant with massive pericardial effusion and craniofacial features that oriented toward the suspicion of AYGRPS, which was subsequently confirmed by the molecular analysis of MAF. Pericardial effusion was first observed prenatally and documented to be recurrent, progressive, and severe in the first months of life, thus requiring pericardiocentesis and surgical procedures. In this report, we provide further delineation of the minor clinical characteristics, particularly focusing on cardiac features of AYGRPS. A dedicated cardiac surveillance of these findings may help reduce the morbidity and mortality of this rare condition.

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Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss

Zheng,

Yan,

Ding

et al. 2024

TACG

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Introduction Syndromic hearing loss (SHL) is characterized by distinctive clinical phenotypes as well as genetic and phenotypic heterogeneity. More than 400 species of SHL have been described, the majority of which are autosomal dominant. Methods 11 forms of SHL were obtained from 14 unrelated families with probands ranging in age from 5 to 78 months. The results of whole exome sequencing(WES), audiological characteristics, middle and inner ear radiological findings, and additional clinical phenotype characteristics were retrospectively analyzed. Results Fourteen people with SHL were found. Two of them had Waardenburg syndrome, two had Branchio-Oto-Renal syndrome, two had CHARGE syndrome, and one had Treacher Collins syndrome, Kleefstra syndrome, Muenke syndrome, Osteopathia Striata with Cranial Sclerosis, Ayme-Gripp syndrome, Tatton-Brown-Rahman syndrome, Stickler syndrome, or Stapes Ankylosis with Broad Thumbs and Toes. In this investigation, ten variants were first reported. Discussion The combination of a neonatal hearing screening and WES can diagnose syndrome-type hearing loss in infancy and childhood, according to our findings, expansion of the gene variant spectrum and phenotype for various age groups of SHL is essential and can provide valuable guidelines for clinical intervention decisions. It is imperative for medical practitioners to conduct diligent and prolonged patient monitoring due to the inherent variability in both the auditory impairment and the comprehensive clinical manifestation of SHL.

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Ayme gripp syndrome in an Indian patient

Cited by 3 publications

References 5 publications

An atypical Aymé‐Gripp phenotype detected by exome sequencing

An atypical Aymé‐Gripp phenotype detected by exome sequencing

Massive pericardial effusion in an infant with Aymé–Gripp syndrome: A case report and review of the literature

Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss

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