The two families with the ILDR1 mutations were identified by targeted NGS of 162 sporadic deaf probands
with likely recessive inheritance.
Target gene sequencing was used to detect the proband
and his 8-year-old daughter, both manifesting a marfanoid aortic sinus and tall stature.
, an 18-year-old male, presented in 2000 with a 3-month history of lethargy, daytime sleepiness, exhaustion, loss of appetite, and headaches, few months after his mother's death due to a spinal ependymoma.
had bilateral, relatively symmetric, central, geographic areas of confluent macular hyperautofluorescence with rounded or scalloped borders that extended nasally past the optic disc (Figure 2).
This alteration was validated using Sanger sequencing in proband
's and available relatives, showing that it appeared de novo (Figure 2).
Total RNA was extracted by the PureLink[R] RNA Mini (Thermo Fisher Scientific, #12183025) from the renal tissues in surgery (in proband
2 a surgical excision of a tumor from the kidney was performed; the control was from other patient tumor borderline tissues without FLCN mutation).
For each proband
, 30 metaphases were counted and 5 metaphases were analyzed and karyograms were prepared using the Cytovision computer-assisted karyotyping system version 4.1 (Applied Imaging, NewCastle Upon Tyne, UK).
abortion, intrauterine death, live birth, neonatal death, stillbirth with any congenital malformation was termed as Proband
DNA was extracted from venous blood specimens for both probands
and their mothers using standard methods.
Noninvasive prenatal diagnosis of Duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband
, and fetus.
for the study were Caribbean Hispanics with suspected familial CRC who were identified through PURIFICAR database.
If depression is categorized into three ranked levels as shown in Table 5, the agreement of the classification based on information provided by the probands
with the classification based on information provided by other informants can be estimated using the unweighted kappa coefficient as follows: