Paula and Bobby
Parents of Lillie
Alopecia, Neurologic Defects, and Endocrinopathy syndrome
What is Alopecia, Neurologic Defects, and Endocrinopathy syndrome?
Alopecia, Neurologic Defects, and Endocrinopathy syndrome is a rare disease. It is also known as Alopecia - Neurological Defects - Endocrinopathy Ane Syndrome.
Five male sibs in a consanguineous family, had a combination of alopecia (partial in some, total in others - biopsy showed absence of mature follicles), mental retardation plus decline in the second decade, a hypoplastic pituitary (with central adrenal insufficiency and hypogonadism), short stature, hypodontia, flexural reticulate hyperpigmentation and facial pigmented nevi, in some (Nousbeck et al., 2008). The condition was mapped to 7q and homozygous mutations found in RBM28 - which encodes a nucleolar protein.
* This information is courtesy of the L M D.
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What gene changes cause Alopecia, Neurologic Defects, and Endocrinopathy syndrome?
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 - 612079 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
RBM28 - 7q32.1
What are the main symptoms of Alopecia, Neurologic Defects, and Endocrinopathy syndrome?
The typical symptoms of the syndrome are:
Autosomal recessive inheritance, Ulnar deviation of the hand or of fingers of the hand, Melanocytic nevus, Hypogonadism, Hypodontia, Gynecomastia, Hyperpigmentation of the skin, Carious teeth, Skeletal muscle atrophy, Alopecia, Motor deterioration, Intellectual disability, Kyphoscoliosis, Flexion contracture, Upper motor neuron dysfunction, Decreased subcutaneous fat, Delayed puberty, Microcephaly, Central adrenal insufficiency
How does someone get tested for Alopecia, Neurologic Defects, and Endocrinopathy syndrome?
The initial testing for Alopecia, Neurologic Defects, and Endocrinopathy syndrome 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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