Renpenning Syndrome 1

Qu'est-ce que Renpenning Syndrome 1?

It is a rare genetic syndrome that affects mainly males. It causes developmental delay, intellectual disability and distinct facial and physical features that characterize the syndrome.

Currently the syndrome has been diagnosed in more than 60 individuals in just 15 families worldwide.

This syndrome is also known as:
Golabi-ito-hall Syndrome Mental Retardation, X-linked 55; Mrx55 Mental Retardation, X-linked, Renpenning Type Mental Retardation, X-linked, Syndromic 3; Mrxs3 Mental Retardation, X-linked, Syndromic 8; Mrxs8 Mental Retardation, X-linked, With Spastic Diplegia Sutherland-haan X-linked Mental Retardation Syndrome; Shs

Quelles sont les causes des changements génétiques Renpenning Syndrome 1?

Mutations in the PQBP1 gene are responsible for causing the syndrome.

It is inherited in an X-linked recessive pattern. This makes it much more common in males. Males have just one X chromosome, and need just one mutated copy of the gene to be affected by the syndrome. For females, this mutation would have to be present on both copies of their X chromosome, an event that is very unlikely. Most females are only carriers for the syndromes, as fathers affected can not pass it on to their sons.

Quels sont les principaux symptômes de Renpenning Syndrome 1?

Unique facial features are one of the main symptoms of the syndrome. These features include a short stature, small head, long and narrow face, a long and bulbous nose, a short philtrum and ears that are cup shaped.

Individuals with certain features of the syndrome were often diagnosed with Golabi-Ito-Hall or Sutherland-Haan syndrome. However these rare diseases all have the same genetic cause and are now diagnosed under Renpenning syndrome.

Symptoms may also affect the skeletal muscles, specifically a wasting away. Individuals with the syndrome may also suffer from seizures.

Underdeveloped testes are also a common symptom that presents with the disease.

Possible clinical traits/features:
Macrotia, Iris coloboma, Sparse lateral eyebrow, Joint contracture of the hand, Macrodontia, Long face, Narrow face, Abdominal situs inversus, Abnormality of hair texture, Abnormal nasal morphology, Intellectual disability, Mandibular prognathia, Pectus excavatum, Micrognathia, Microphthalmia, Narrow foot, Narrow mouth, Protruding ear, Phimosis, Poor suck, Renal hypoplasia, Sensorineural hearing impairment, Seizure, Pes cavus, Nasal speech, Hypermetropia, Hypertonia, Hyperreflexia, Short stature, Hearing impairment, Cognitive impairment, Hypospadias, Hypoplasia of the zygomatic bone, High palate, Wide nasal bridge, Bulbous nose, Brachycephaly, Cataract, Aplasia/Hypoplasia of the eyebrow, Atrial septal defect, Blindness, Anal atresia, Skeletal muscle atrophy, Anxiety, Abnormal thumb morphology, Abnormal testis morphology, Abnormality of the rib cage, Cleft palate, Cerebral atrophy, Abnormality of calvarial morphology, Epicanthus, Decreased testicular size, Malar flattening, Limitation of joint mobility

Comment quelqu'un se fait-il tester pour Renpenning Syndrome 1?

Les premiers tests de Renpenning Syndrome 1 peut commencer par un dépistage par analyse faciale, en passant par le FDNA Telehealth plateforme de télégénétique, qui permet d'identifier les marqueurs clés de la syndrome et souligner la nécessité de tests supplémentaires. Une consultation avec un conseiller génétique puis un généticien suivra. 

Sur la base de cette consultation clinique avec un généticien, les différentes options pour les tests génétiques seront partagées et le consentement sera recherché pour des tests supplémentaires.

Informations médicales sur Renpenning Syndrome 1

A large Dutch Mennonite pedigree was described by Renpenning et al., (1962) from Saskatchewan, Canada, containing 21 retarded males and showing apparent X-linked inheritance. The affected males were said to be well built with skull circumference at the lower limit of normal. Two had seizures, one was blind, one developed diabetes and one had bilateral colobomata with a left cataract. IQs ranged from 15 to 70 (average 30). Fox et al., (1980) followed up the family and noted the above findings as well as short stature, small to normal sized testes and absence of fragile X. Jacobs et al., (1980) provide further information about the original Renpenning pedigree (family R).
Robledo et al., (1996) reported linkage studies on the family first described by Archidiaconio et al., (1987). This was confusing as there was a LOD score of 2.7 for markers at Xp11, but also at Xq21-26. Stevenson et al., (1998) mapped the gene to Xp11 with a LOD score of 3.21 in Renpenning's original family. Additional features that were noted included central balding, up-slanting palpebral fissures, and a short philtrum. The gene at Xp11 is the polyglutamine tract binding protein 1 gene and mutations have been reported in the original Renpenning family by Lenski et al., (2004) - see under 'PQBP1 mutations and X-linked mental retardation'
The condition is well reviewed by Stevenson et al., (2005). Thirteen French patients all with a PQBP1 mutation were reported by Germanaud et al., (2011). All had leanness and mild short stature. Muscxular atrophy involving the back and spinal muscles was noted in 11, and metacarpophalangeal ankylosis of the thums was also noted. The face was triangular, the nose ridged, the nose large, and the ears were protruding. The hair was sparse and rough.
Abdel-Salam et al. (2018) reported four male patients from two unrelated families with mutations in PQBP1. The three patients in the first family (with protein-truncating mutation) showed typical features including long triangular face, bulbous nose, hypoplastic malar region, and micrognathia. The patient from the second family had a missense mutation an presented with intellectual disability and dysmorphic facial features reminiscent of Kabuki-like syndrome. Brain imaging revealed partial agenesis of corpus callosum and mild vermis and brainstem hypoplasia.

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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