Although the common disease-causing genes PMP22 and MPZ were not mutated in this case, the diagnosis is probably CMT1, because of the clinical and neurophysiological findings of demyelinating sensorimotor neuropathy in the patient and his mother.
5] Human genes: PMP22, peripheral myelin protein 22; MPZ, myelin protein zero.
A specific example would be testing first for PMP22 duplications and deletions in a patient with neuropathy and an appropriate clinical presentation, before proceeding with testing for less prevalent mutations that can also cause hereditary neuropathy.
4] Human genes: DYSF, dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive); PMP22, peripheral myelin protein 22; GJB2, gap junction protein, beta 2, 26kDa; HD, huntington (Huntington disease); BRCA1, breast cancer 1, early onset; BRCA2, breast cancer 2, early onset.
STR 4A is ideally located in the first intron of the PMP22 gene, 3.
55 Mb at the center of the CMT1A region, including the PMP22 gene sequence.
n] polymorphic marker D17S122 (RM11-GT), detection of a junction fragment with PFGE, or FISH with a PMP22 probe.
Determination of gene dosage at the PMP22 and androgen receptor loci by quantitative PCR.
In the first step, a fragment of the PMP22
gene is amplified.
Poropat and Nicholson also found that the linearity for the PMP22
assay was well maintained over many cycles, and the authors selected 26 cycles for the quantitative analysis (1).
Oligonucleotide primers (Table 1) were designed to amplify two target sequences [part of the PMP22
gene and EW401 (D17S61)] that lie within the potentially duplicated or deleted target region and one reference sequence (5' untranslated area of NF1 gene at 17811.
Charcot-Marie-Tooth disease type 1A: association with spontaneous point mutation in the PMP22