Diagnosis and screening of fragile X syndrome: experiences in Taiwan.
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Fragile X Messenger Ribonucleoprotein 1↗
Biomedical subjects
Shio-Jean Lin
Publications and source records attributed to Shio-Jean Lin.
Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.
The oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked multisystem disorder characterized by congenital cataracts, mental retardation, and renal tubular dysfunction. The OCRL1 gene responsible for Lowe syndrome has been mapped to chromosome Xq24-q26. We analyzed two Taiwanese OCRL patients and their families. In Case 1, a splicing mutation (889-11 G --> A) was identified in intron 10 of the OCRL1 gene. The mother is a heterozygous carrier. The 889-11 G --> A mutation results in an abnormal splicing and predicts premature termination of translation. In Case 2, a novel de novo missense mutation (1373G --> A, P458H) was identified in exon 14 of the OCRL1 gene. The missense mutation predicts a substitution in a domain highly conserved among the inositol-5-phosphatase family.
Base Sequence↗
A survey of parental consent process for newborn screening in Taiwan.
Recent technological developments in newborn screening (NBS) allow many genetic/metabolic disorders to be detected pre-symptomatically even though they may be untreatable. Thus, current NBS faces ethical, legal, and social challenges. Obtaining parental consent for NBS demonstrates respect for and educates parents. The purpose of this study was to explore current practices in obtaining parental consent to conduct NBS in Taiwan. A self-administered questionnaire was mailed to obstetric clinicslhospitals (N=339) and 204 questionnaires were returned for a response rate of 60.2%. Parental consent processes for NBS were divided into three categories-informed consent, informed refusal, and no informedlconsent. Between 66.7-67.6% clinics/hospitals used an "informed consent" model for all NBS items. Although most clinics/hospitals frequently informed parents before screening was conducted, the information given was often incomplete. Moreover, a "no informedl consent" model was used for congenital adrenal hyperplasia (CAH) and rare geneticlmetabolic disorders in between 22.5% and 25.1% of the clinics/hospitals, respectively. A total of 23.1% of clinics/hospitals chose an "informed refusal" model for the five traditional genetic/metabolic disorders. Using logistic regression analysis, the parental consent process for the five traditional disorders was found to have significant associations with the classification of the hospitals and the contracted NBS center (p < 0.01). Regional hospitals less frequently used the "informed consent" model than local clinics, and the clinics/hospitals that contracted with National Taiwan University Hospital were more likely to follow an "informed consent" model rather than those contracted with Taipei Institute Pathology. Establishing specific guidelines to regulate the parental consent process and educate medical personnel is crucial.
Adult↗
Nationwide singleton birth weight percentiles by gestational age in Taiwan, 1998-2002.
There are limited nationwide population-based data about birth weight percentiles by gestational age in Taiwan. The purpose of this study was to develop updated intrauterine growth charts that are population based and contain the information of birth weight percentiles by gestational age for singleton newborns in Taiwan. We abstracted and analyzed the birth registration database from the Ministry of the Interior in Taiwan during the period of 1998-2002 that consisted of over one million singleton births. Percentiles of birth weight for each increment of gestational week from 21 to 44 weeks were estimated using smoothed means and standard deviations. The analyses revealed that birth weight rose with advancing gestational age, with greater slopes during the third trimester and then leveled off beyond 40 weeks of gestational age. The male to female ratio ranged from 1.088 to 1.096. The mean birth weights during the period of 1998-2002 were higher than those previously reported for the period of 1945-1967; while the birth weight distribution and percentile during the period of 1998-2002 were similar to those reported for the period of 1979-1989. The 10th, 50th, and 90th percentiles of birth weigh at 40th gestational age among the male newborns were 2914, 3374, and 3890 g respectively; and for the female newborns 2816, 3250, and 3747 g. At the gestational age of 37 weeks, the 10th, 50th, and 90th percentiles of birth weigh among the male newborns were 2499, 2941, and 3433 g respectively; and for the female newborns 2391, 2832, and 3334 g. From 1998 to 2002, there was a gradual increase in the prevalence of low birth weight and preterm birth together with the percentage of infants born to foreign-born mothers. This study provides the first nationwide singleton intrauterine growth charts in Taiwan that are population-based and gender-specific. The normative data are particularly useful for the investigation of predictors and outcomes of altered fetal growth.
Birth Weight↗