Siderius X-Linked Mental Retardation syndrome

What is Siderius X-Linked Mental Retardation syndrome?

It is a rare genetic syndrome that affects only males. It presents mainly with intellectual disability.

X-linked mental retardation occurs in around 1 in every 5-6,000 males. However the Siderius type is much rarer and its exact prevalence is currently unknown. It is believed to affect less than a handful of individuals.

This syndrome is also known as:
Chromosome Xp11.22 - microdeletion Mental Retardation, X-linked, Syndromic, Siderius Type Siderius X-Linked Mental Retardation syndrome Siderius-hamel Syndrome

What gene changes cause Siderius X-Linked Mental Retardation syndrome?

It is caused by mutations in the PHF8 gene.

The syndrome is inherited in an X-linked recessive pattern. This makes it much more common in males. Females are the carriers of the mutated gene.

What are the main symptoms of Siderius X-Linked Mental Retardation syndrome?

The main symptoms of the syndrome include intellectual disability and developmental delay. This is usually identified as mild to moderate. This delay includes delayed motor development, and delayed speech development.

A cleft lip and palate are also common symptoms of the syndrome. Affected individuals also usually have unique facial features that include a long face, sloping forehead, broad nasal bridge, low set ears and large hands.

Possible clinical traits/features:
Scoliosis, Synophrys, Abnormality of the nose, Cleft palate, Non-midline cleft lip, Preaxial hand polydactyly, Large hands, Intellectual disability, Low posterior hairline, Long face, Cognitive impairment, Cryptorchidism

How does someone get tested for Siderius X-Linked Mental Retardation syndrome?

The initial testing for Siderius X-Linked Mental Retardation syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Medizinische Informationen zu Siderius X-Linked Mental Retardation syndrome

Siderius et al., (1999) reported a three-generation family where mental retardation and cleft lip and palate appeared to be segregating as autosomal recessive. The gene was mapped to Xp11.3-q21.3. The IQ in the affected males was reported as 60-80, behaviour was said to be aggressive with unpredictable outburst. Other dysmorphic features noted were a broad nasal tip, synophrys, a low posterior hairline, small retractile testes, scoliosis, a long face, and large hands. A large X-linked family was reported by Laumonnier et al., (2005). Mutations were found in PHF8, which encodes a new member of the PHD finger protein family. These PHD finger genes might regulate transcription. Long thin fingers and toes, were additional clinical findings in this family. A novel mutation was reported by Abidi et al., (2007).
Two brothers diagnosed as having autistic features, mental retardation and facial clefting were found to have Xp11.22 micro-deletions (Qiao et al., 2008). PHF8 was deleted as were FAM120C and WNK3 which the authors suggest might be involved in the autistic disorder.
Autism was again a feature of the case reported by Chung et al., (2011).
Redin et. al. (2014) performed exome trio testing in 106 patients with intellectual disability but without major anomalies or suspicion or mitochondrial/ peroxisomal disorders. Two males with mild intellectual disability had a hemizygous missense mutation (one de novo, one maternally inherited) of the PHF8 gene.
Microarray analysis of fifteen patients with nonsyndromic cleft/lip palate was performed by da Silva et. al. (2018). One patient with unilateral cleft lip/palate had an 85.9 kb duplication at Xp11.22 encompassing the PHF8 gene.

* This information is courtesy of the L M D.
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