Pituitary hypoplasia and growth hormone deficiency in Coffin‐Siris syndrome

Baban, Anwar; Moresco, Luca; Divizia, Maria Teresa; Rossi, Andrea; Ravazzolo, Roberto; Lerone, Margherita; Toni, Teresa De

doi:10.1002/ajmg.a.32111

Cited by 17 publications

(11 citation statements)

References 29 publications

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“…Prior to the discovery of the molecular etiology of CSS, several case reports of patients with a clinical diagnosis of CSS cited endocrinologic and metabolic abnormalities that have the potential to influence growth. These case reports included two siblings with hypophosphatasia and high alkaline phosphate levels, one patient with recurrent hypoglycemia, and one patient with growth hormone (GH) deficiency that was successfully treated with recombinant GH therapy (Baban et al, 2008; Imaizumi, Nakamura, Masuno, Makita, & Kuroki, 1995; Rabe et al, 1991). More recently, Celen et al (2017) reported on three individuals (two with a mutation in ARID1B and one with a mutation in SMARCA4 ) who experienced deficiency in the GH‐IGF1 (Insulin‐like growth factor) axis.…”

Section: Discussionmentioning

confidence: 99%

Growth charts for individuals with Coffin‐Siris syndrome

McCague

Lamichhane

Holt

et al. 2020

American J of Med Genetics Pt A

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Coffin‐Siris syndrome (CSS; OMIM #135900) is a rare, multisystem syndrome caused by pathogenic variants in genes encoding the BRG‐1 associated factors complex (BAF). Individuals with CSS often present with feeding difficulties and failure to thrive during infancy, in addition to a number of variable congenital anomalies. Nutritional interventions are used to support growth in this population, and growth hormone therapy has been reported in a limited number of cases. The purpose of this study was to construct CSS‐specific growth charts to better characterize the growth in this population. Anthropometric data were collected from 99 individuals enrolled in the CSS/BAF pathway international registry via a retrospective chart review. All measurements obtained after the first exposure to growth hormone therapy were excluded from this analysis. Sex‐specific centiles (5th, 50th, and 95th) were estimated for height, weight, and head circumference from birth to age 10. Cubic smoothing splines were then fit to the centile estimates and superimposed on normative male and female growth curves for comparison. The CSS patients in this cohort exhibited normal growth parameters at birth. By age 10, the weight and head circumference of the CSS cohort began to approach normal parameters. Stature, however, remained shortened at 10 years of age.

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Section: Discussionmentioning

confidence: 99%

Growth charts for individuals with Coffin‐Siris syndrome

McCague

Lamichhane

Holt

et al. 2020

American J of Med Genetics Pt A

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“…Endocrine abnormalities are rare, but include individual reports of hypoglycemia without other laboratory abnormalities [Imaizumi et al, 1995], premature thelarche [Brunetti-Pierri et al, 2003; Flynn and Milunsky, 2006] and pituitary hypoplasia with growth hormone deficiency [Baban et al, 2008]. While Proband 8 also displays premature thelarche, the other phenotypic characteristics do not appear to overlap with the probands described in the literature with thelarche.…”

Section: Discussion and Review Of Literaturementioning

confidence: 99%

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

Schrier

Bodurtha

Burton

et al. 2012

American J of Med Genetics Pt A

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Coffin-Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail hypoplasia. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically and the existence of this disorder as a specific diagnosis has been at times an issue of debate. In an effort to further delineate the spectrum and key phenotypic features, we reviewed 80 previously reported cases to define features in patients that most closely correlated with a convincing diagnosis. There appear to be two subtypes of CSS, one which displays the “classic” coarse facial features previously described; another displays “variant” facial features which are less striking. Using these features, we defined an algorithm to rank the confidence of diagnosis and applied it to fifteen additional patients who had been previously characterized by chromosome microarray. This approach will also facilitate uniform categorization for whole-exome analysis.

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“…Informed consent was obtained to publish photographs. Patients 12 [Baban et al., ], 34 [Sousa et al., ; Van Houdt et al., ], and 101–103 [Santen et al., ] were published previously.…”

Section: Methodsmentioning

confidence: 99%

“…Informed consent was obtained to publish photographs. Patients 12 [Baban et al, 2008], 34 [Sousa et al, 2009;Van Houdt et al, 2012], and 101-103 [Santen et al, 2012a] were published previously. Initially, all patients were screened for variants in ARID1B.…”

Section: Patientsmentioning

confidence: 99%

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

et al. 2013

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De novo germline variants in several components of the SWI/SNF-like BAF complex can cause Coffin-Siris syndrome (CSS), Nicolaides-Baraitser syndrome (NCBRS), and nonsyndromic intellectual disability. We screened 63 patients with a clinical diagnosis of CSS for these genes (ARID1A, ARID1B, SMARCA2, SMARCA4, SMARCB1, and SMARCE1) and identified pathogenic variants in 45 (71%) patients. We found a high proportion of variants in ARID1B (68%). All four pathogenic variants in ARID1A appeared to be mosaic. By using all variants from the Exome Variant Server as test data, we were able to classify variants in ARID1A, ARID1B, and SMARCB1 reliably as being pathogenic or nonpathogenic. For SMARCA2, SMARCA4, and SMARCE1 several variants in the EVS remained unclassified, underlining the importance of parental testing. We have entered all variant and clinical information in LOVD-powered databases to facilitate further genotype-phenotype correlations, as these will become increasingly important because of the uptake of targeted and untargeted next generation sequencing in diagnostics. The emerging phenotype-genotype correlation is that SMARCB1 patients have the most marked physical phenotype and severe cognitive and growth delay. The variability in phenotype seems most marked in ARID1A and ARID1B patients. Distal limbs anomalies are most marked in ARID1A patients and least in SMARCB1 patients. Numbers are small however, and larger series are needed to confirm this correlation.

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Pituitary hypoplasia and growth hormone deficiency in Coffin‐Siris syndrome

Cited by 17 publications

References 29 publications

Growth charts for individuals with Coffin‐Siris syndrome

Growth charts for individuals with Coffin‐Siris syndrome

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

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