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Gene: ZC4H2

Green List (high evidence)

The ZC4H2 gene is associated with both XLD & XLR conditions (OMIM).

For carrier screening testing, the only relevant condition is XLR Wieacker-Wolff syndrome MIM#314580.

Wieacker-Wolff syndrome is an infrequently described syndromic form of arthrogryposis multiplex congenita (AMC) with central and peripheral nervous system involvement (PMID: 31206972).

Genotype-phenotype correlation: null variants are often associated with the XLD female restricted phenotype (and are possibly hemizygous lethal) while variants resulting in partial LoF are associated with the XLR condition (PMID: 31206972). Carrier females of variants resulting in partial LoF may present mild symptoms due to skewed X-inactivation (PMID: 31206972). Therefore, the female partner may be affected.

Created: 5 Feb 2025, 1:23 a.m. | Last Modified: 5 Feb 2025, 1:23 a.m.

Panel Version: 1.1456

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Wieacker-Wolff syndrome MIM#314580

Publications

• 31206972
• 37010288