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Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.

ABSTRACT: This study includes previous reports of four affected individuals from two unrelated families with hedgehog acyl-transferase (HHAT)-related multiple congenital anomaly syndrome. Microcephaly, small cerebellar vermis, holoprosencephaly, agenesis of corpus callosum, intellectual disability, short stature, skeletal dysplasia, microphthalmia-anophthalmia, and sex reversal constitute the phenotypic spectrum of this condition with variable expression. We report an additional family with three affected conceptuses: two abortuses and one living proband. We did proband-parents trio exome sequencing and identified a biallelic in-frame deletion c.365_367del; (p.Thr122del) in exon 5 of HHAT. With this report, we delineate the phenotype and allelic heterogeneity of the HHAT-related multiple congenital anomaly syndrome.

SUBMITTER: Pande S

PROVIDER: S-EPMC8373648 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature

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Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.

Pande Shruti S Radhakrishnan Periyasamy P Shetty Naveenchandra M NM Shukla Anju A Girisha Katta M KM

American journal of medical genetics. Part A 20210322 9

This study includes previous reports of four affected individuals from two unrelated families with hedgehog acyl-transferase (HHAT)-related multiple congenital anomaly syndrome. Microcephaly, small cerebellar vermis, holoprosencephaly, agenesis of corpus callosum, intellectual disability, short stature, skeletal dysplasia, microphthalmia-anophthalmia, and sex reversal constitute the phenotypic spectrum of this condition with variable expression. We report an additional family with three affected ...[more]

PMID: 33749989

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