In only 4 of 14 (26%) cases with a positive family history did the
proband give a history of a relative with a known diagnosis of IDCM.
The clinical examination of Family 1 (
proband I) as shown in intraoral photograph, panoramic radiograph (fig-1A to F) revealed a missing maxillary teeth 12,18,22,28 and mandibular teeth 31,41,42 (FDI number system).
Thus both a chromosomal microarray analysis (CMA) of the
proband's peripheral blood and a fluorescence in-situ hybridization (FISH) analysis of the peripheral blood and of the testis-like structures in the streak gonad tissue were performed.
Data from WES led to the identification of 11 genes that were mutated in association with FSGS in the
proband [Table 1].
This was further supported by the absence of the MLH1 and PMS2 protein expression in the index
proband. Moreover, in silico analysis using the MutationTaster prediction tool classified the duplication as disease-causing mutation.
Family C: Ultrasonographic examination of the
proband IV-4 in this family revealed patent tubes and anovular ovaries with a history of dysmenorrhea.
Caption: Figure 2: Genogram with the
proband who has the traslocation
First, only the priest and
proband are initially allowed in the church.
The young brother (individual II: 6) of the
proband exhibited similar clinical and echocardiographic features (Table 1 and Figure 2(d)), dilatation of the aortic sinus to 67 mm with marked aortic valve regurgitation, and moderate mitral insufficiency.
Therefore, the features seen in the
proband were likely due to partial trisomy 4q.
DNA was extracted from the
proband's whole blood leucocytes using Qiagen DNA extraction Mini KIT according to the manufacturer's protocol.
Peripheral blood samples were obtained with informed consent from the five individuals (the
proband IV1, the brother of the
proband IV2, the parents of the
proband III3 and III4, and the uncle of the
proband III1) and then stored in EDTA anticoagulant tubes.
Sanger sequencing for ABCA4, PRPH2, and ELOVL4 was performed on one
proband (case 1), and PRPH2/RDS-peripherin was sequenced in all cases.
This alteration was validated using Sanger sequencing in
proband's and available relatives, showing that it appeared de novo (Figure 2).
Most of her patients with HS are black, and a recent study described a gamma-secretase mutation in a black family of a
proband and four family members (JAMA Dermatol.
