Webb–Dattani Syndrome: Report of a Saudi Arabian Family with a Novel Homozygous Mutation in the ARNT2 Gene

Author:

Al-Sannaa Nouriya Abbas1,Pepler Alexander2,Al-Abdulwahed Hind Y.1,Al-Majed Sami I.1,Abdi Rifat F.1,Menzel Moritz2,Biskup Saskia2

Affiliation:

1. Pediatrics Services Division, Radiology Services Division, Johns Hopkins Aramco Healthcare (JHAH), Dhahran, Saudi Arabia

2. CeGaT GmbH, Tübingen, Germany

Abstract

AbstractWebb–Dattani syndrome (WEDAS) is an autosomal recessive disorder caused by mutation in the ARNT2 gene characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency. The condition is reported to be associated with consanguinity and with Saudi Arabian ancestry. Here we describe a family of three affected siblings born to healthy second cousin parents of Saudi Arabian ancestry. The children presented at 3 months of age with congenital central hypotonia and hypoventilation, central diabetes insipidus, multiple pituitary hormone deficiency, severe developmental delay, acquired microcephaly, cortical blindness with normal retinal examination, seizures, and gastroesophageal reflux. Whole exome sequencing detected a homozygous unclear variant (c.378C>T; p.G126G) in the ARNT2 gene in both the affected twins. According to splice prediction programs, this variant results in the creation of a cryptic donor splice site, possibly leading to a loss of function. These data support the role of the detected mutation in the ARNT2 gene in causing the described phenotype.

Publisher

Georg Thieme Verlag KG

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Hypothalamo-pituitary Disorders in Childhood and Adolescence;Endocrinology;2023

2. Webb-Dattani Syndrome;Genetic Syndromes;2023

3. The Molecular Basis of Congenital Hypopituitarism and Related Disorders;The Journal of Clinical Endocrinology & Metabolism;2019-11-08

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