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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. © 2021 Wiley Periodicals LLC.


Shruti Pande, Periyasamy Radhakrishnan, Naveenchandra M Shetty, Anju Shukla, Katta M Girisha. Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. American journal of medical genetics. Part A. 2021 Sep;185(9):2756-2765

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PMID: 33749989

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