Renpenning syndrome in an Indian patient |
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Authors: | Suzena Masih Amita Moirangthem Shubha R Phadke |
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Institution: | 1. Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, India;2. https://orcid.org/0000-0003-0756-9868;3. Amita Moirangthem Department of Medical Genetics Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow 226014, Uttar Pradesh, India. |
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Abstract: | Renpenning syndrome is one of the well‐characterized causes of X‐linked intellectual disability and is associated with microcephaly and various visceral malformations. Face is considered characteristic but the dysmorphism is subtle. Here we report an Indian adult with a very lean habitus, progressive atrophy of the upper back muscles, microcephaly, loss of cervical lordosis, and upper thoracic scoliosis. Using whole‐exome sequencing, a hemizygous deletion was identified in PQBP1 that leads to a frameshift and premature termination of translation. The loss of normal curvatures of cervical and upper thoracic spine due to muscular atrophy is a characteristic feature, though it may be age dependent. |
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Keywords: | lean habitus microcephaly
PQBP1 Renpenning syndrome X‐linked intellectual disability |
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