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Neuromuscular and Neuroendocrinological Features Associated With -Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report. | LitMetric

AI Article Synopsis

  • Wieacker-Wolff syndrome (WWS) is an X-linked genetic disorder causing severe developmental and muscular issues, linked to mutations affecting brain development.
  • A Sicilian family case study identified a specific hemizygous variant in the associated gene, leading to symptoms like short stature, neurological delays, and recurrent hypoglycemia in a boy.
  • Muscle biopsies revealed unique neuromuscular junction abnormalities, highlighting the need for further understanding of WWS's wide-ranging effects on neurodevelopment and muscle function.

Article Abstract

Wieacker-Wolff syndrome (WWS) is an X-linked Arthrogryposis Multiplex Congenita (AMC) disorder associated with broad neurodevelopmental impairment. The genetic basis of WWS lies in hemizygous pathogenic variants in , encoding a C4H2 type zinc-finger nuclear factor abundantly expressed in the developing human brain. The main clinical features described in WWS families carrying pathogenic variants encompass having a short stature, microcephaly, birth respiratory distress, arthrogryposis, hypotonia, distal muscle weakness, and broad neurodevelopmental delay. We hereby report a Sicilian family with a boy clinically diagnosed with WWS and genetically investigated with exome sequencing (ES), leading to the identification of a c.593G>A (p. R198Q) hemizygous pathogenic variant in the gene. During the first year of life, the onset of central hypoadrenalism led to recurrent hypoglycemic events, which likely contributed to seizure susceptibility. Also, muscle biopsy studies confirmed a pathology of the muscle tissue and revealed peculiar abnormalities of the neuromuscular junction. In conclusion, we expand the phenotypic spectrum of the WWS-related neurodevelopmental disorders and discuss the role of in the context of the potential neuroendocrinological and neuromuscular features associated with this condition.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8313121PMC
http://dx.doi.org/10.3389/fneur.2021.704747DOI Listing

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