Paula and Bobby
Parents of Lillie
Alopecia-Mental Retardation syndrome 1; APMR1
What is Alopecia-Mental Retardation syndrome 1; APMR1?
Alopecia-Mental Retardation syndrome 1; APMR1 is a rare disease. It is also known as Amr Syndrome.
This refers to a number of case reports in which sibs have had congenital universal atrichia and mental retardation, with or without microcephaly and seizures. Other cases with deafness and hypogonadism are probably separate - see Crandall (1973). The family reported by Moynahan (1962) is difficult to place, in that three relatives had a minor degree of alopecia and the hair subsequently grew.
Pridmore et al., (1992) suggest that these patients are heterogeneous and can be split into three groups. The first group contains cases with congenital total alopecia and microcephaly (Baraitser et al., 1983; Mosavy 1975; Pfeiffer and Volklein 1982; Hannig and Tiller, 1995). The second group have alopecia and mental retardation, with or without seizures, but without microcephaly (Moynahan, 1962; Richieri-Costa and Frota-Pessoa, 1979). The third group is represented by the two male infants from a consanguineous Pakistani pedigree with subtotal alopecia, microcephaly, mental retardation and seizures reported by Pridmore et al., (1992).
The condition reported by Shokeir et al., (1977) was associated with pyorrhoea and was inherited in a dominant manner. Timar et al., (1993) reported a similar case with a giant pigmented nevus.
Sailani et al. (2017) reported a consanguineous family with seven affected individuals (3 females and four males, 3 to 24 years old) carrying a homozygous missense mutation in ASGH gene. All the patients had alopecia and intellectual disability with an IQ ranging between 40 and 54. All females and one male presented with partial alopecia, while remaining males presented with complete alopecia.
* This information is courtesy of the L M D.
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What gene changes cause Alopecia-Mental Retardation syndrome 1; APMR1?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 203650 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
AHSG - 3q27.3
What are the main symptoms of Alopecia-Mental Retardation syndrome 1; APMR1?
The typical symptoms of the syndrome are:
Autosomal recessive inheritance, Alopecia universalis, Intellectual disability, progressive, Intellectual disability, severe
How does someone get tested for Alopecia-Mental Retardation syndrome 1; APMR1?
The initial testing for Alopecia-Mental Retardation syndrome 1; APMR1 can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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