Martin Probst Syndrome

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The Martin-Probst syndrome is a very rare congenital to the syndromic X-linked mental retardation scoring disease with the main features of mental retardation and deafness .

Synonyms are: X-linked hearing loss - mental retardation; Syndrome of X-linked hearing loss with intellectual disability

The name refers to the first authors of the first description from the year 2000 by the American pediatrician Donna M. Martin, the human geneticist Frank J. Probst and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far only one family with affected persons in three generations has been described. The inheritance is X-linked - recessive . The causative genetic defect was mapped to region Xq1-q21.

Discussed a mutation in RAB40AL - gene , also RLGP gene called.

Clinical manifestations

Clinical criteria are:

In addition to facial dysmorphism as telangiectasias , hypertelorism , dental anomalies, broad nasal bridge, possibly short stature , pancytopenia , microcephaly and abnormalities in the urogenital tract come.

literature

  • FJ Probst, P. Hedera, AM Sclafani, MG Pomponi, G. Neri, J. Tyson, JA Douglas, EM Petty, DM Martin: Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome. In: American journal of medical genetics. Part A. Vol. 131, No. 2, December 2004, pp. 209-212, doi: 10.1002 / ajmg.a.30308 , PMID 15389700 .

Individual evidence

  1. ↑ a b c Deafness-mental retardation, type Martin-Probst. In: Orphanet (Rare Disease Database).
  2. ↑ DM Martin, FJ Probst, SA Camper, EM Petty: Characterization and genetic mapping of a new X linked deafness syndrome. In: Journal of Medical Genetics . Vol. 37, No. 11, November 2000, pp. 836-841, PMID 11073537 , PMC 1734461 (free full text).
  3. ↑ JK Bedoyan, VM Schaibley, W. Peng, Y. Bai, K. Mondal, AC Shetty, M. Durham, JA Micucci, A. Dhiraaj, JM Skidmore, JB Kaplan, C. Skinner, CE Schwartz, A. Antonellis, ME Zwick, JD Cavalcoli, JZ Li, DM Martin: Disruption of RAB40AL function leads to Martin – Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorder. In: Journal of Medical Genetics . Vol. 49, No. 5, May 2012, pp. 332-340, doi: 10.1136 / jmedgenet-2011-100575 , PMID 22581972 , PMC 3350147 (free full text).
  4. ↑ M. Ołdak, E. Ruszkowska, A. Pollak, A. Sobczyk-Kopcioł, C. Kowalewski, A. Piwońska, W. Drygas, R. Płoski: A note of caution on the diagnosis of Martin Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene. In: European Journal of Pediatrics. Vol. 174, No. 5, May 2015, pp. 693-696, doi: 10.1007 / s00431-014-2452-x , PMID 25370018 , PMC 4544553 (free full text).

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