Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome

Kanthi, Anil and Hebbar, Malavika and Katta, Girisha M and Shukla, Anju (2019) Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome. European Journal of Medical Genetics, 62. pp. 1-4. ISSN 1769-7212

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Abstract

Biallelic pathogenic variants in KLHL7 are known to result in Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1) like phenotype and Bohring-Opitz-like syndrome. In this report, a trio whole-exome sequencing (WES) was performed in proband with cold-induced sweating, microcephaly, facial dysmorphism,spasticity, failure to thrive, pigmentary abnormalities of the retina, hypoplasia of corpus callosum and periventricular nodular heterotopia. A novel homozygous in-frame deletion was identified in exon 2 of KLHL7,affecting the BTB domain of the protein. Our findings expand the clinical and molecular spectrum of KLHL7-related disorders.

Item Type: Article
Uncontrolled Keywords: Crisponi/CISS1-like syndrome; KLHL7; Exome sequencing; Bohring-Opitz-like syndrome
Subjects: Medicine > KMC Manipal > Obstetrics & Gynaecology
Depositing User: KMC Library
Date Deposited: 13 Sep 2019 05:53
Last Modified: 13 Sep 2019 05:53
URI: http://eprints.manipal.edu/id/eprint/154507

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