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Article

Further delineation of HIDEA syndrome.

American journal of medical genetics. Part A - 1 Dec 2020

Maddirevula Sateesh, Ben-Omran Tawfeg, AlMureikhi Mariam, Eyaid Wafa, Arabi Hisham, Alkuraya Hisham, Alfaifi Abdullah, Alfalah Abdullah Hamed, Alsaif Hessa S, Abdulwahab Firdous, Alfadhel Majid, Alkuraya Fowzan S

Abstract excerpt

Recently, the genetic cause of HIDEA syndrome (hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities) was identified as biallelic pathogenic variants in P4HTM, which encodes an atypical member of the prolyl 4-hydroxylases (P4Hs) family of enzymes. We report seven patients from four new families in whom HIDEA was only diagnosed after whole-exome sequencing (WES)...

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PMID: 32965080
DOI: 10.1002/ajmg.a.61885

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