X-linked intellectual disability
| Subclass of | intellectual disability, X-linked disease, syndromic intellectual disability, genetic syndromic intellectual disability  |
|---|---|
| Health specialty | neurology, medical genetics |
X-linked intellectual disability dey refer to medical disorders wey be associated plus X-linked recessive inheritance wey result in intellectual disability.
As plus chaw X-linked disorders, males be more heavily affected dan females.[1] Females plus one affected X chromosome den one normal X chromosome tend to get milder symptoms.
Unlike chaw oda types of intellectual disability, de genetics of dese conditions relatively be well understood.[2][3] Na dem estimate der be ~200 genes involved insyd dis syndrome; of dese ~na 100 be identified.[4] Chaw of dese genes be found on de short 'p' arm of de chromosome, den duplications at Xp11.2 be associated plus de syndromic form of de condition.[5][6]
X-linked intellectual disability dey account for ~16% of all cases of intellectual disability insyd males.[7]
Syndromes
[edit | edit source]Several X-linked syndromes dey include intellectual disability as part of de presentation. Dese include:
- Coffin–Lowry syndrome
- DDX3X syndrome
- MASA syndrome
- MECP2 duplication syndrome
- Mental retardation den microcephaly plus pontine den cerebellar hypoplasia
- X-linked alpha thalassemia mental retardation syndrome
References
[edit | edit source]- ↑ "Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism". International Birth Defect Information Systems. Retrieved 2010-12-10.
- ↑ Ropers HH, Hamel BC (January 2005). "X-linked mental retardation". Nature Reviews. Genetics. 6 (1): 46–57. doi:10.1038/nrg1501. PMID 15630421. S2CID 427210.
- ↑ Lugtenberg D, Veltman JA, van Bokhoven H (September 2007). "High-resolution genomic microarrays for X-linked mental retardation". Genetics in Medicine. 9 (9): 560–565. doi:10.1097/GIM.0b013e318149e647. PMID 17873643.
- ↑ Stevenson RE, Schwartz CE (2009). "X-linked intellectual disability: unique vulnerability of the male genome". Developmental Disabilities Research Reviews. 15 (4): 361–368. doi:10.1002/ddrr.81. PMID 20014364.
- ↑ "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org (in American English). Retrieved 2018-03-09.
- ↑ "Microduplication Xp11.22-p11.23 syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov (in English). Archived from the original on 2021-03-21. Retrieved 2018-03-09.
- ↑ Stevenson RE, Schwartz CE (2009). "X-linked intellectual disability: unique vulnerability of the male genome". Developmental Disabilities Research Reviews. 15 (4): 361–368. doi:10.1002/ddrr.81. PMID 20014364.